A 73 year old female presents to your office for a first ocular exam. Visual acuities are 20/30 OU. Anterior segment examination shows the following finding:
Which of the following genes is associated with mutations that lead to this disorder?
Mutations in the TGFB1 (BIGH3) gene are related to the development of multiple forms of corneal dystrophy, but not to pseudoexfoliation syndrome.
Mutations of the rhodopsin gene are related to the development of retinal degeneration, but not pseudoexfoliation syndrome.
Mutations in the ABCA4 are associated with Stargardt’s disease and other forms of retinal degeneration, but not pseudoexfoliation syndrome.
Pseudoexfoliation syndrome (PXF) is a relatively common and clinically important disorder of the extracellular matrix. It is characterized by the production and progressive accumulation of abnormal fibrillar material in the eye and extraocular tissues.1,2 Although the fibrillar material is deposited throughout the body, PXF is most important in the eye. It is the most common etiology worldwide for secondary open-angle glaucoma (in some regions, it is the most common cause for glaucoma overall),3 and also has numerous other clinical implications.
The disorder was first described by the Finnish ophthalmologist Lindberg in 1917, who built his own slit lamp specifically to study the disease. The association of the disease with glaucoma was noticed early, being referred to as “glaucoma capsulare”. PXF was further characterized by Vogt in 1925.4
The term “pseudoexfoliation” is used to differentiate the entity from “true exfoliation” of the lens capsule, a rare condition occurring in the setting of lens trauma from infrared radiation (e.g. in glass blowers) or other sources.5 In true exfoliation syndrome, schisis of the anterior lens capsule occurs which can be seen with slit lamp biomicroscopy.